Canonical Allele Identifier: CA563496299
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs1192971714
gnomAD v2: 5-135382365-A-G
gnomAD v3: 5-136046676-A-G
gnomAD v4: 5-136046676-A-G
MyVariant Identifiers: chr5:g.135382365A>G (hg19) chr5:g.136046676A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046676A>G , CM000667.2:g.136046676A>G GRCh38
NC_000005.9:g.135382365A>G , CM000667.1:g.135382365A>G GRCh37
NC_000005.8:g.135410264A>G NCBI36
NG_012646.1:g.22782A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.460-175A>G MANE Select ENSP00000416330.2:n.460-175A>G
ENST00000442011.6:c.460-175A>G ENSP00000416330.2:n.460-175A>G
ENST00000506699.5:n.705A>G
ENST00000507018.5:c.437+120A>G
ENST00000515433.1:n.932A>G
NM_000358.2:c.460-175A>G NP_000349.1:n.460-175A>G
NM_000358.3:c.460-175A>G MANE Select NP_000349.1:n.460-175A>G
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